All Subjects Medicine Surgery Pathology Anatomy Pharmacology Social & Preventive Medicine Microbiology Gynaecology & Obstetrics Dental Physiology Biochemistry Pediatrics
Showing 188246 questions
Sort:
168236 Pathology

A 25-year-old man with a history of autism and mental retardation is seen by a genetic counselor. The man has coarse facial features, an increased head circumference, and macro-orchidism. His maternal uncle is similarly affected. After further evaluation, a diagnosis of fragile X syndrome is rendered. What is the most likely underlying cause of this patient’s genetic disease?

AChromosomal nondisjunction
BChromosome inversion
CExpansion of trinucleotide repeat
DFrame-shift mutation
Pathology
View Explanation →